Ataxia and cerebellar anomalies - narrow panel
Gene: COG5EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 11 panels
1 review
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: All cases reported to date have been associated with recessive inheritance with the exception of one family with "one potential heterozygous mutation" reported in 2017 (PMID: 28960046). As no further monoallelic cases have been reported since, updating the MOI from 'both mono- and biallelic' to 'biallelic' only until further evidence emerges supporting pathogenicity of heterozygous variants in this gene.Created: 28 Nov 2022, 4:47 p.m. | Last Modified: 28 Nov 2022, 4:47 p.m.
Panel Version: 2.317
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Congenital disorder of glycosylation, type IIi
- Tags
- OMIM
- 606821
- Clinvar variants
- Variants in COG5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist_moi tag was added to gene: COG5.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COG5 was added gene: COG5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG5 were set to 19690088; 28960046 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi